×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia.
26631338 2016
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.
27586648 2016
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia.
26381711 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.
26115329 2015
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
23558838 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families.
24013571 2013
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families.
20681998 2011
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
20142353 2010
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47.
19685112 2009
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
The 13 remaining MHS patients presented no known variants, neither in RYR1 nor in the CACNA1S binding regions to RYR1 .
19191329 2009
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
16163667 2005
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization.
14732627 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia.
15221887 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene.
14985404 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
15448513 2004
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles.
12709367 2003
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript.
12883402 2003
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
12059893 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.
12123492 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients.
11928716 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees.
12066726 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility.
12411788 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Of a total of 20 individuals with mutations in the RYR1 gene, 14 were part of a group of 47 MH susceptible (MHS ) patients, 4 of 34 individuals diagnosed as MH equivocal (MHE), and 2 were patients diagnosed with minicore myopathy and CCD, respectively.
12208234 2002
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations.
11575529 2001
×
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
Malignant hyperthermia susceptibility type 1
0.700
GeneticVariation
UNIPROT
Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype.
11389482 2001